Amaurotic family idiocy

Amaurotic family idiocy is a rare condition which has been observed in Jewish children. It was first described in 1871 by Mr. Waren Tay; since then about 68 cases have been recorded. In the New York Medical Journal of July 12th Dr A. Hymanson has published the following case. A male infant whose parents were Russian Jews appeared normal until the eighth month, when he ceased to take any interest in his surroundings. He would not raise his head and made purposeless movements of the limbs. The head was large, measuring 19 inches in circumference. The fontanelles were prominent and widely open, but at the age of 10 months they were gradually closing. At the age of 15 months he could not hold his head up; it was usually thrown backwards. He was very anaemic, his muscles daily became weaker and more flabby, and spontaneous movements gradually ceased. He had a vacant look and seemed to see light but did not recognise his parents. He seemed to be deaf but became frightened when anyone knocked at the door. During sleep the eyes and mouth were wide open. The pupils were slightly contracted and did not react to light. The fundi showed changes exactly similar to those described by Mr. Waren Tay. Corresponding to the macula lutea of each eye was a large bluish-white spot about twice the size of the optic disc. At its centre was a brownish-red circular dot. The optic discs were in a state of grey atrophy and the calibre of the vessels was markedly reduced. The child died at the age of 19 months. Two weeks before death there was great anorexia. He was much emaciated, could hardly move his limbs, and had gluteal bed-sores. The temperature was subnormal, 97.5° to 98° F. A necropsy was refused. Of the 68 recorded cases 40 are known to have been fatal: the result in the others is unknown. The family predisposition is shown by the fact that 28 cases occurred in 18 families. 30 cases were observed in America, 11 in England, 14 in Germany, and the remainder in other countries. The necropsies have not shown any abnormality in the form or structure of the cerebral convolutions. Thus the etiology and pathology are unknown. The chief clinical features are idiocy, weakness of all the muscles terminating in paralysis, gradual loss of sight, characteristic changes in the macula lutea, marasmus, and death at the end of the second year.